Výsledky vyhledávání

Inheritance of a terminal 7.1âMb 18p deletion flanked by a 2.3âMb duplication from a physically normal mother

Autor: Helle Lybæk, Doriana Misceo, Karen Helene Ørstavik, Gunnar Houge, Eirik Frengen, Inger Sandvig, Eli Ormerod

Publikováno v: American Journal of Medical Genetics Part A. :2877-2881

Inheritance of a Terminal 7.1 Mb 18p Deletion Flanked by a 2.3 Mb Duplication From a Physically Normal Mother Doriana Misceo, Karen Helene Orstavik, Helle Lybaek, Inger Sandvig, Eli Ormerod, Gunnar Houge, and Eirik Frengen* Faculty of Medicine, Insti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d994c73d7834b1eb59801be54792c9cb
https://doi.org/10.1002/ajmg.a.33106

Zobrazit plný text záznamu

Technical and biological aspects of pseudomosaicism and mosaicism

Autor: Pål Møller, Eli Ormerod

Publikováno v: Clinical Genetics. 31:153-157

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e2b65c1ebb41c54312e3ab2cbff5b8
https://doi.org/10.1111/j.1399-0004.1987.tb02787.x

Zobrazit plný text záznamu

A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype

Autor: C. B. Van Der Hagen, S. H. Torp, C. V. Isaksen, H.-G. Blaas, Eli Ormerod, Sturla H. Eik-Nes

Publikováno v: Ultrasound in Obstetrics and Gynecology. 16:37-45

Objective To compare ultrasound and post-mortem findings in 98 fetuses and infants with an abnormal karyotype. Design Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM), an abnormal karyotype, and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e840e2a680a04b37c0ec1c6ebd5b0c0d
https://doi.org/10.1046/j.1469-0705.2000.00157.x

Zobrazit plný text záznamu

nm23 protein expression in fine-needle aspirates from breast carcinoma

Autor: Kahsai Beraki, Irene Furu, Eli Ormerod, Peter Jebsen, Oddvar Naess, Torill Sauer

Publikováno v: Cancer. 84:109-114

BACKGROUND nm23 has been recognized as a potential suppressor gene of metastasis. Reduced nm23 expression in breast carcinoma has been found to correlate with axillary lymph node metastases, high grade tumors, and shorter survival. METHODS nm23 prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a91b61b64309cae6ee71a173b0b00cf
https://doi.org/10.1002/(sici)1097-0142(19980425)84:2<109::aid-cncr7>3.0.co

Zobrazit plný text záznamu

Ploidy analysis by in situ hybridization of interphase cell nuclei in fine-needle aspirates from breast carcinomas: Correlation with cytologic grading

Autor: Oddvar Naess, Eli Ormerod, Kahsai Beraki, Peter Jebsen, Torill Sauer

Publikováno v: Diagnostic Cytopathology. 17:267-271

Fine-needle aspirates from 54 breast cancer patients were investigated for numeric aberrations in chromosomes 6, 7, 12, and 17 by in situ hybridization (ISH) of interphase cell nuclei. Ploidy findings were compared with cytologic grading of tumors. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d2d5311e39fd25ed2df9e9e30e7310
https://doi.org/10.1002/(sici)1097-0339(199710)17:4<267::aid-dc6>3.0.co

Zobrazit plný text záznamu

The heterogeneity of craniofacial morphology in Prader-Willi patients

Autor: D, Belengeanu, Cristina, Bratu, Monica, Stoian, A, Motoc, Eli, Ormerod, Angela Codruţa, Podariu, Simona, Farcaş, Nicoleta, Andreescu

Publikováno v: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 53(3)

Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases. There are several reports describing the craniofacial appearance of Prader-Willi patients,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4325e61f5836669b3dccc5f48b065304
https://pubmed.ncbi.nlm.nih.gov/22990543

Zobrazit plný text záznamu

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene

Autor: Kristina Gervin, Aage Erichsen, Beate Skinningsrud, Eirik Frengen, Dag E. Undlien, Gregor D. Gilfillan, Eystein S. Husebye, Thore Egeland, Eli Ormerod

Publikováno v: The Journal of Clinical Endocrinology & Metabolism; Vol 94

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism (AHCH) is known to be caused by coding mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, encoding the transcriptional repressor dosage-sensitive se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4985d277272bb9e9df26876d79d6239
https://pubmed.ncbi.nlm.nih.gov/19773398

Zobrazit plný text záznamu

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Autor: Karen Helene Ørstavik, Zafar Nawaz, Vivienne K. Maloney, Nazneen Rahman, Daniela T. Pilz, Karen Marks, Christa Lese-Martin, Meriel McEntagart, Susan Tomkins, Katrina Tatton-Brown, P. W. Thompson, Shuwen Huang, Morag N. Collinson, John C. K. Barber, Eli Ormerod, Michael A. Patton, Paula Waits, John A. Crolla

Publikováno v: American journal of medical genetics. Part A. (2)

Trisomy and tetrasomy of distal chromosome 15q have rarely been reported. Although most of the described patients have some learning difficulties and are overgrown, the phenotype associated with distal trisomy/tetrasomy 15q is uncertain due to the sm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eea6aa16f6363e147a981010975dd1e
https://pubmed.ncbi.nlm.nih.gov/19133692

Zobrazit plný text záznamu

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

Autor: Lazarous P. Lazarou, Petter Strømme, Hilde Nordgarden, Lyndon G. Rosser, Eli Ormerod, Gun Peggy Knudsen, Karen Helene Ørstavik, Trine Prescott, Gunnar Houge

Publikováno v: American journal of medical genetics. Part A. (13)

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X act

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3351f2f5898f5d00ccc2bd3c2dcf8e86
https://pubmed.ncbi.nlm.nih.gov/17568423

Zobrazit plný text záznamu

Estimating loss of the wild-type p53 gene by in situ hybridization of fine-needle aspirates from breast carcinomas

Autor: Eli Ormerod, Peter Jebsen, Torill Sauer, Kahsai Beraki, Irene Furu, Oddvar Naess

Publikováno v: Diagnostic cytopathology. 20(5)

TP53 mutations have been found in 16‐64% of breast carcinomas. The aim of our study was to investigate loss of the wild-type TP53 gene by in situ hybridization (ISH) of fine-needle aspirates (FNAC) from breast carcinomas. The material consisted of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c95cb97e0e8a96cf502300c3bef38fe3
https://pubmed.ncbi.nlm.nih.gov/10319226

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání